强迫症与5-羟色胺转运体基因多态的关联分析

Association between obsessive-compulsive disorder and polymorphism of serotonin transporter gene

目的 探索汉族人群中5-羟色胺转运体SLC6A4基因多态与强迫症发病的关系。方法采用聚合酶链反应扩增片段长度多态技术测定120例强迫症患者(强迫症组)和130名健康人(对照组)的SLC6A4基因型。结果 强迫症组SLC6A4第2内含子及启动子的基因型多态分布与对照组间的差异有显著性(X2=6.70,P=0.035;X2=6.35,P=0.042);第2内含子等位基因频数分布与对照组之间的差异有非常显著性(X2=7.54,P=0.006);第2内含子的等位基因10,12/10基因型和启动子的L/L基因型与强迫症存在显著正关联[比数比(OR)值分别为2.24,2.12和3.57,P<0.05];强迫症组及对照组内不同性别间基因型分布的差异均无显著性(P>0.05)。结论 在汉族人群中SLC6A4基因可能与强迫症存在遗传关联,第2内含子的等位基因10和12/10基因型、启动子的L/L基因型可能是强迫症的风险因子。

Objective To explore the association between polymorphism of serotonin transporter gene (SLC6A4) and obsessive-compulsive disorder (OCD) in the Han nationality. Methods Altogether 120 unrelated OCD patients and 130 sex-matched healthy controls were included in this study. The subjects were genotyped directly with polymerase chain reaction amplification fragment length polymorphism techniques. Results There were significant differences between patients and controls on genotype of intron 2 and promoter (x2 = 6. 70, P - 0. 035; x2 = 6. 35, P = 0. 042) of SLC6 A4 gene. There was very significant difference between them on intron 2 allele frequencies of SLC6A4 (x2 = 7. 54, P = 0. 006 ) . Allele 10 and genotype 12/10 of intron 2 and genotype L/L of promoter of SLC6A4 were positively associated with OCD. There were no significant difference on genotype of SLC6A4 between the different sex of patients and controls. Conclusions The results suggest that the polymorphism of SLC6A4 gene may be associated with OCD in the Han nationality, with allele 10, genotype 12/10 or genotype L/L may be risk factors for OCD.